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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-43797025-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=43797025&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 43797025,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001242397.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "NM_002822.5",
"protein_id": "NP_002813.3",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395510.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002822.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000395510.7",
"protein_id": "ENSP00000378886.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002822.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395510.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"transcript": "ENST00000548315.5",
"protein_id": "ENSP00000449428.1",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 357,
"cds_start": 854,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548315.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180His",
"transcript": "ENST00000552521.5",
"protein_id": "ENSP00000448750.1",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 252,
"cds_start": 539,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552521.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"transcript": "NM_001242397.2",
"protein_id": "NP_001229326.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 357,
"cds_start": 854,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242397.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"transcript": "ENST00000867316.1",
"protein_id": "ENSP00000537375.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 348,
"cds_start": 827,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867316.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278His",
"transcript": "ENST00000922447.1",
"protein_id": "ENSP00000592506.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 348,
"cds_start": 833,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922447.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Arg276His",
"transcript": "ENST00000922448.1",
"protein_id": "ENSP00000592507.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 348,
"cds_start": 827,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922448.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.707G>A",
"hgvs_p": "p.Arg236His",
"transcript": "ENST00000963047.1",
"protein_id": "ENSP00000633106.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 308,
"cds_start": 707,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963047.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "ENST00000963048.1",
"protein_id": "ENSP00000633107.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963048.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180His",
"transcript": "XM_047429198.1",
"protein_id": "XP_047285154.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 252,
"cds_start": 539,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429198.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180His",
"transcript": "XM_047429199.1",
"protein_id": "XP_047285155.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 252,
"cds_start": 539,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429199.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM117",
"gene_hgnc_id": 25308,
"hgvs_c": "c.-29+875C>T",
"hgvs_p": null,
"transcript": "XM_047429662.1",
"protein_id": "XP_047285618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": null,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429662.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "n.*863G>A",
"hgvs_p": null,
"transcript": "ENST00000547459.5",
"protein_id": "ENSP00000446665.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547459.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "n.368G>A",
"hgvs_p": null,
"transcript": "ENST00000551789.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551789.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "n.1295G>A",
"hgvs_p": null,
"transcript": "NR_073472.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073472.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "n.960G>A",
"hgvs_p": null,
"transcript": "NR_073473.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073473.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"hgvs_c": "n.*863G>A",
"hgvs_p": null,
"transcript": "ENST00000547459.5",
"protein_id": "ENSP00000446665.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547459.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IRAK4",
"gene_hgnc_id": 17967,
"hgvs_c": "n.*1362+875C>T",
"hgvs_p": null,
"transcript": "ENST00000696795.1",
"protein_id": "ENSP00000512876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696795.1"
}
],
"gene_symbol": "TWF1",
"gene_hgnc_id": 9620,
"dbsnp": "rs201203866",
"frequency_reference_population": 0.00009184708,
"hom_count_reference_population": 0,
"allele_count_reference_population": 148,
"gnomad_exomes_af": 0.0000986857,
"gnomad_genomes_af": 0.0000262819,
"gnomad_exomes_ac": 144,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13616254925727844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.81,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001242397.2",
"gene_symbol": "TWF1",
"hgnc_id": 9620,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000696795.1",
"gene_symbol": "IRAK4",
"hgnc_id": 17967,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*1362+875C>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XM_047429662.1",
"gene_symbol": "TMEM117",
"hgnc_id": 25308,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-29+875C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}